10345[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
Select item 155386	GRCh38/hg38 6q22.31(chr6:123188343-124008918)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GUncertain significance
Select item 155424	GRCh38/hg38 6q22.31(chr6:123197871-124008917)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GUncertain significance
Select item 150767	GRCh38/hg38 6q22.31(chr6:123206369-123959291)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GLikely benign
Select item 148694	GRCh38/hg38 6q22.31(chr6:123206400-123981401)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GLikely benign
Select item 33225	GRCh38/hg38 6q22.31(chr6:123206400-123959297)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GUncertain significance
Select item 355198	NM_006073.4(TRDN):c.*1456CA[3]	TRDN	Microsatellite (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 1283183	NM_006073.4(TRDN):c.*220C>T	TRDN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1226229	NM_006073.4(TRDN):c.*137G>A	TRDN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1189826	NM_006073.4(TRDN):c.*122T>A	TRDN	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1296366	NM_006073.4(TRDN):c.*62G>A	TRDN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1263065	NM_006073.4(TRDN):c.*61A>G	TRDN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 532435	NC_000006.11:g.(?_123539726)_(123957940_?)dup	LOC129389633, TRDN-AS1 +3 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 532432	NC_000006.11:g.(?_123539726)_(123825066_?)dup	LOC129389631, TRDN +1 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1194225	NM_006073.4(TRDN):c.*19T>G	TRDN	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1212310	NM_006073.4(TRDN):c.*15C>T	TRDN	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1787373	NM_006073.4(TRDN):c.2189A>G (p.Ter730=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225248	NM_006073.4(TRDN):c.2188T>C (p.Ter730Gln)	TRDN	Single nucleotide variant (stop lost)	Cardiovascular phenotype	GUncertain significance
Select item 839610	NM_006073.4(TRDN):c.2187G>T (p.Gln729His)	TRDN (Q729H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 2131099	NM_006073.4(TRDN):c.2185C>G (p.Gln729Glu)	TRDN (Q729E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1062966	NM_006073.4(TRDN):c.2185C>T (p.Gln729Ter)	TRDN (Q729*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 2447980	NM_006073.4(TRDN):c.2183G>T (p.Gly728Val)	TRDN (G728V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1520602	NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg)	TRDN (G728R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 2166287	NM_006073.4(TRDN):c.2180A>G (p.Gln727Arg)	TRDN (Q727R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 566685	NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter)	TRDN (Q727*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 1367267	NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter)	TRDN (Q726*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2742395	NM_006073.4(TRDN):c.2169A>G (p.Gly723=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1057805	NM_006073.4(TRDN):c.2167G>A (p.Gly723Arg)	TRDN (G723R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1486122	NM_006073.4(TRDN):c.2165C>T (p.Pro722Leu)	TRDN (P722L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 659814	NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala)	TRDN (P722A)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2100014	NM_006073.4(TRDN):c.2160T>C (p.Asn720=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2447972	NM_006073.4(TRDN):c.2154A>C (p.Gln718His)	TRDN (Q718H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2083018	NM_006073.4(TRDN):c.2149_2150del (p.Gly717fs)	TRDN (G717fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1786743	NM_006073.4(TRDN):c.2150G>A (p.Gly717Asp)	TRDN (G717D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1805411	NM_006073.4(TRDN):c.2146T>C (p.Ser716Pro)	TRDN (S716P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5	GUncertain significance
Select item 408735	NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly)	TRDN (S715G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1402602	NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu)	TRDN (G713E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 287342	NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu)	TRDN (P712L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1786453	NM_006073.4(TRDN):c.2134C>T (p.Pro712Ser)	TRDN (P712S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225247	NM_006073.4(TRDN):c.2133C>T (p.Arg711=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 949355	NM_006073.4(TRDN):c.2132G>A (p.Arg711His)	TRDN (R711H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 240286	NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys)	TRDN (R711C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1786390	NM_006073.4(TRDN):c.2130C>A (p.Asp710Glu)	TRDN (D710E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 229342	NM_006073.4(TRDN):c.2126C>A (p.Ala709Glu)	TRDN (A709E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2069929	NM_006073.4(TRDN):c.2123C>T (p.Pro708Leu)	TRDN (P708L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 426276	NM_006073.4(TRDN):c.2122C>T (p.Pro708Ser)	TRDN (P708S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2866830	NM_006073.4(TRDN):c.2121T>A (p.Thr707=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1462213	NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile)	TRDN (F704I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 2200549	NM_006073.4(TRDN):c.2109G>T (p.Gln703His)	TRDN (Q703H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1016457	NM_006073.4(TRDN):c.2108A>G (p.Gln703Arg)	TRDN (Q703R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 658514	NM_006073.4(TRDN):c.2096del (p.Gly699fs)	TRDN (G699fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1785777	NM_006073.4(TRDN):c.2094T>C (p.Asn698=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 453105	NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser)	TRDN (N698S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1412502	NM_006073.4(TRDN):c.2092A>C (p.Asn698His)	TRDN (N698H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 408741	NM_006073.4(TRDN):c.2092A>G (p.Asn698Asp)	TRDN (N698D)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1533511	NM_006073.4(TRDN):c.2091C>T (p.Tyr697=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 2879198	NM_006073.4(TRDN):c.2090A>G (p.Tyr697Cys)	TRDN (Y697C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3225246	NM_006073.4(TRDN):c.2089T>G (p.Tyr697Asp)	TRDN (Y697D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1006884	NM_006073.4(TRDN):c.2087G>A (p.Gly696Glu)	TRDN (G696E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 408739	NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)	TRDN (D695V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 851620	NM_006073.4(TRDN):c.2074G>A (p.Val692Ile)	TRDN (V692I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 515178	NM_006073.4(TRDN):c.2073T>C (p.Cys691=)	TRDN	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1506821	NM_006073.4(TRDN):c.2072G>C (p.Cys691Ser)	TRDN (C691S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1447964	NM_006073.4(TRDN):c.2060G>A (p.Ser687Asn)	TRDN (S687N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 2904628	NM_006073.4(TRDN):c.2051-5C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 699952	NM_006073.4(TRDN):c.2051-6C>T	TRDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867858	NM_006073.4(TRDN):c.2051-12T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3018332	NM_006073.4(TRDN):c.2051-13C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1530097	NM_006073.4(TRDN):c.2051-13C>A	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1621143	NM_006073.4(TRDN):c.2051-19_2051-18inv	TRDN	Inversion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 259915	NM_006073.4(TRDN):c.2051-19G>A	TRDN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2722897	NM_006073.4(TRDN):c.2050+18T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1785058	NM_006073.4(TRDN):c.2050+2_2050+16delinsATTATT	TRDN	Indel (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1599544	NM_006073.4(TRDN):c.2050+16G>A	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GBenign
Select item 698883	NM_006073.4(TRDN):c.2050+9A>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 463676	NM_006073.4(TRDN):c.2050+2T>C	TRDN	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1525119	NM_006073.4(TRDN):c.2050+1G>A	TRDN	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1900402	NM_006073.4(TRDN):c.2037C>T (p.Pro679=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 845787	NM_006073.4(TRDN):c.2030T>G (p.Val677Gly)	TRDN (V677G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 834805	NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly)	TRDN (D676G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 742344	NM_006073.4(TRDN):c.2015-5A>T	TRDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1521588	NM_006073.4(TRDN):c.2015-6C>A	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2415412	NM_006073.4(TRDN):c.2015-7C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1089937	NM_006073.4(TRDN):c.2015-9A>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1210553	NM_006073.4(TRDN):c.2014+278A>G	TRDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249340	NM_006073.4(TRDN):c.2014+78del	TRDN	Deletion (intron variant)	not provided	GBenign
Select item 1661488	NM_006073.4(TRDN):c.2014+20A>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1542841	NM_006073.4(TRDN):c.2014+17T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1634976	NM_006073.4(TRDN):c.2014+15T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2729389	NM_006073.4(TRDN):c.2014+9G>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1374095	NM_006073.4(TRDN):c.2014+6T>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1518379	NM_006073.4(TRDN):c.2014G>A (p.Glu672Lys)	TRDN (E672K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance

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